Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Service de Biochimie Médicale et Biologie Moléculaire, |
RCV001248816 | SCV001364096 | likely pathogenic | Trichorhinophalangeal dysplasia type I | 2020-06-22 | criteria provided, single submitter | clinical testing | Deletion (11pb) ==> Frameshift in exon 4(/7) |